Search
epidermolysis bullosa dystrophica Hallopeau-Siemens type
Pathology:
- increased collagenase immunoreactivity in skin
- anchoring fibrils in the cutaneous basement membrane zone are few & poorly developed
Genetics:
- associated with defects in COL7A1
Clinical manifestations:
- blistering disease of skin
- extensive mutilating scarring, blistering, & erosions of the skin & mucous membranes
- affects hands, feet, elbows, knees, mucosa, conjunctiva & cornea
- joint contractures
- corneal erosions
- esophageal strictures
Complications:
- propensity for cutaneous squamous cell carcinoma
- death
Management:
- no specific therapy available [1]
- cell therapy with allogeneic cultured fibroblasts holds promise [1]
General
epidermolysis bullosa dystrophica (EBD)
Properties
ASSOCIATED-NEOPLASM[S]: squamous cell carcinoma of the skin
Database Correlations
OMIM correlations
References
- Wong T et al.
Potential of fibroblast cell therapy for recessive dystrophic
epidermolysis bullosa.
J Invest Dermatol 2008 Sep; 128:2179.
PMID: 18385758
- Uitto J.
Epidermolysis bullosa: Prospects for cell-based therapies.
J Invest Dermatol 2008 Sep; 128:2140.
PMID: 18695685